ArticleNature communications2018
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 160 papers, 6 of them syntheses that pooled it.
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Who cites it
160 citing papers in PubMed, 6 syntheses or guidelines pooled it, 263 citations in OpenAlex.
- Development and Validation of an Ipsilateral Breast Tumor Recurrence Risk Estimation Tool Incorporating Real-World Data and Evidence From Meta-Analyses: A Retrospective Multicenter Cohort Study.JCO clinical cancer informatics · 2025Pooled it
- Adjusting for Ascertainment Bias in Meta-Analysis of Penetrance for Cancer Risk.Statistics in medicine · 2025Pooled it
- The Association of PTEN Gene Mutations with the Breast Cancer Risk: A Systematic Review and Meta-analysis.Biochemical genetics · 2024Pooled it
- Bayesian meta-analysis of penetrance for cancer risk.Biometrics · 2024Pooled it
- Germline rare variants in HER2-positive breast cancer predisposition: a systematic review and meta-analysis.Frontiers in oncology · 2024Pooled it
- Does breast-conserving surgery with radiotherapy in BRCA-mutation carriers significantly increase ipsilateral breast tumor recurrence? A systematic review and meta-analysis.Breast cancer (Tokyo, Japan) · 2022Pooled it
- Phase II trial of veliparib and temozolomide in metastatic breast cancer patients with and without BRCA1/2 mutations.Breast cancer research and treatment · 2021Trial
- Focal adhesion kinase inhibitor defactinib enhances olaparib-induced suppression of BRCA-proficient breast cancer cell proliferation.Oncology letters · 2026Article
- Germline pathogenic variants in Japanese adolescents and young adults with advanced solid tumors: a nationwide tumor-normal paired sequencing study.International journal of clinical oncology · 2026Observational
- Article
- Towards sustainable hereditary breast and ovarian cancer surveillance: insights from a single-center survey.Journal of human genetics · 2026Article
- Characterization of putative germline pathogenic variants in 27 candidate cancer-predisposing genes in 813 cats using a feline-specific multiplex targeted sequencing.Scientific reports · 2026Article
- Prevalence and clinical significance of germline pathogenic variants identified by multigene panel testing in high-risk Japanese patients with breast cancer.Breast cancer (Tokyo, Japan) · 2026Article
- Real-world uptake of gBRCA testing as a companion diagnostic for olaparib in patients with high-risk HER2-negative early breast cancer in Japan: a cross-sectional multicenter study (BRCAwareness).Breast cancer (Tokyo, Japan) · 2026Article
- Comprehensive evidence for the pathogenicity of theJournal of medical genetics · 2026Article
- Impact of BRCA1/2 pathogenic variants on ipsilateral breast tumor recurrence and prognosis following breast-conserving surgery.Breast cancer research and treatment · 2026Article
- Germline Genetic Testing in Breast and Gynecologic Cancers: Evaluating Age at Diagnosis as a Determinant.Cancers · 2026Article
- Age-related genomic characterization and therapeutic targets in Chinese breast cancer: insights from prospective targeted sequencing and clinical data analysis.BMC medicine · 2026Article
- Mutational profiles of spontaneous and radiation-related mammary carcinomas in a rat model of Brca1 haploinsufficiency.Scientific reports · 2026Article
- Clinicopathological features of breast cancer in Ukrainian women with BRCA1 c.181T>G (p.Cys61Gly) variant: a case series.Frontiers in endocrinology · 2026Article
100 more citing papers are in PubMed but not listed here.
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Authors and funding
15 authors at 8 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pathogenic variants in highly penetrant genes are useful for the diagnosis, therapy, and surveillance for hereditary breast cancer. Large-scale studies are needed to inform future testing and variant classification processes in Japanese. We performed a case-control association study for variants in coding regions of 11 hereditary breast cancer genes in 7051 unselected breast cancer patients and 11,241 female controls of Japanese ancestry. Here, we identify 244 germline pathogenic variants. Pathogenic variants are found in 5.7% of patients, ranging from 15% in women diagnosed <40 years to 3.2% in patients ≥80 years, with BRCA1/2, explaining two-thirds of pathogenic variants identified at all ages. BRCA1/2, PALB2, and TP53 are significant causative genes. Patients with pathogenic variants in BRCA1/2 or PTEN have significantly younger age at diagnosis. In conclusion, BRCA1/2, PALB2, and TP53 are the major hereditary breast cancer genes, irrespective of age at diagnosis, in Japanese women.
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